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https://www.readbyqxmd.com/read/29329111/severe-peri-ictal-respiratory-dysfunction-is-common-in-dravet-syndrome
#1
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Douglas R Nordli Jr, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. DS patients have a high risk of sudden unexplained death in epilepsy (SUDEP), believed to be due to cardiac mechanisms. Here we show that DS patients have peri-ictal respiratory dysfunction. One patient who had severe and prolonged postictal hypoventilation later died of SUDEP. Mice with an Scn1aR1407X/+ loss of function mutation died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
January 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29321515/nationwide-survey-on-cerebrotendinous-xanthomatosis-in-japan
#2
Yoshiki Sekijima, Shingo Koyama, Tsuneaki Yoshinaga, Masayoshi Koinuma, Yuji Inaba
Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541 questionnaires were sent to clinical departments across Japan. A total of 1032 (40.6%) responses were returned completed for further analysis...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29305781/health-related-quality-of-life-in-mothers-of-children-with-epilepsy-10%C3%A2-years-after-diagnosis
#3
Klajdi Puka, Mark A Ferro, Kelly K Anderson, Kathy N Speechley
PURPOSE: Epilepsy in childhood extends far beyond seizures and affects child and parental well-being. The long-term impact of childhood-onset epilepsy on parental well-being is unknown. This study assessed health-related quality of life (HRQOL) in mothers 10 years after their child's diagnosis of epilepsy. METHODS: Data come from the Health-Related Quality of Life in Children with Epilepsy Study, a multicenter prospective cohort study of children with newly diagnosed epilepsy...
January 5, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29301151/erratum-cognition-and-behavior-in-childhood-epilepsy
#4
Bernd A Neubauer
No abstract text is available yet for this article.
January 4, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#5
REVIEW
Frank Mc Besag
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29295801/prevalence-of-idiopathic-epilepsy-among-school-children-in-gharbia-governorate-egypt
#6
Azza Kamal Alshahawy, Amira Hamed Darwish, Safynaz Elsaid Shalaby, Wegdan Mawlana
BACKGROUND: Epilepsy is one of the most common neurological disorders among children. Data about its prevalence in Egypt is limited. Our aim was to study the prevalence of idiopathic epilepsy among school children in Gharbia governorate, Egypt. SUBJECTS AND METHODS: A Cross-sectional school-based survey study was conducted; a validated screening questionnaire was distributed among urban and rural primary and preparatory school children. Students with suspected epilepsy were subjected to clinical evaluation, Electroencephalogram (EEG), and neuroimaging...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29288503/neurodegenerative-processes-in-temporal-lobe-epilepsy-with-hippocampal-sclerosis-clinical-pathological-and-neuroimaging-evidence
#7
X Y Tai, B Bernhardt, M Thom, P Thompson, S Baxendale, M Koepp, N Bernasconi
Cognitive decline is increasingly described as a co-morbidity of temporal lobe epilepsy (TLE). Mechanisms underlying cognitive impairment are not fully understood despite examining clinical factors, such as seizure frequency, and cellular mechanisms of excitotoxicity. We review the neuropsychometry evidence for progressive cognitive decline and examine the pathology and neuroimaging evidence supporting a neurodegenerative process in hippocampal sclerosis (HS)-related TLE. Accelerated cognitive decline is described in groups of adult HS-related TLE patients...
December 30, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29286390/a-novel-strategy-combining-array-cgh-whole-exome-sequencing-and-in-utero-electroporation-in-rodents-to-identify-causative-genes-for-brain-malformations
#8
Valerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, Richard J Leventer, Fabienne Schaller, Elena Parrini, Agathe A Deparis, Françoise Watrin, Emmanuelle Buhler, Francesca Novara, Stefano Lise, Alistair T Pagnamenta, Usha Kini, Jenny C Taylor, Orsetta Zuffardi, Alfonso Represa, David Antony Keays, Renzo Guerrini, Antonio Falace, Carlos Cardoso
Birth defects that involve the cerebral cortex - also known as malformations of cortical development (MCD) - are important causes of intellectual disability and account for 20-40% of drug-resistant epilepsy in childhood. High-resolution brain imaging has facilitated in vivo identification of a large group of MCD phenotypes. Despite the advances in brain imaging, genomic analysis and generation of animal models, a straightforward workflow to systematically prioritize candidate genes and to test functional effects of putative mutations is missing...
December 1, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#9
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29258970/mowat-wilson-syndrome-presenting-with-fever-associated-seizures
#10
Se Eun Seo, Se Hee Kim, Seung Tae Lee, Jong Rak Choi, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang
Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever-triggered seizures during childhood. Both had characteristic facial features, cognitive impairment, and genito-urinary anomalies consistent with MWS. By performing targeted next-generation sequencing (NGS) using a gene panel for epilepsy, we were able to identify a nonsense mutation (c...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29249508/attention-deficit-hyperactivity-disorder-and-associated-cognitive-dysfunction-in-pediatric-epilepsy
#11
Jorge Vidaurre, Jaime Dawn E Twanow
Attention deficit hyperactivity disorder (ADHD) is the most common neuropsychiatric comorbidity associated with childhood epilepsy, affecting about a third of children with epilepsy. In contrast, ADHD in the general population occurs in 4%-12% of school-aged children. The cause of this association remains unclear. It is likely that common mechanisms underlie the vulnerability for both executive deficits and epileptogenesis. There are characteristics unique to children with ADHD and epilepsy. The inattentive type of ADHD is more prevalent than the combined presentation in children with epilepsy, while the combined type is more common in the general population...
November 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29249505/early-life-epilepsies-are-a-comorbidity-of-developmental-brain-disorders
#12
Anne T Berg, Daniel Tarquinio, Sookyong Koh
Early-life epilepsies are a series of disorders frequently accompanied by a broad range of morbidities that include cognitive, behavioral, neuromuscular, and sleep disturbances; enteric and other forms of autonomic dysfunction; sensory processing difficulties; and other issues. Usually these morbidities cluster together in a single patient. Rather than these being separate conditions, all, including the seizures, are manifestations or coexpressions of developmental brain disorders. Instead of viewing epilepsy as the disease and the other features as comorbidities, approaching early-life epilepsies as part of the spectrum of developmental brain disorders could have implications for multidisciplinary care models, anticipatory guidance, and counseling of parents, as well as the design of randomized trials and targeting important outcomes...
November 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29249504/cognitive-disabilities-and-long-term-outcomes-in-children-with-epilepsy-a-tangled-tail
#13
Carol Camfield, Peter Camfield
Cognitive problems ranging from mild specific learning problems to profound intellectual disability (ID) are very common in children with epilepsy. For most affected patients there is good evidence that the cognitive problems are present at the onset of seizures and do not deteriorate over time. There is no evidence that a few seizures lead to cognitive deterioration. An exception may occur in children with epileptic encephalopathies, although this contention is not always easy to prove. ID is a strong predictor of intractable epilepsy, and the greater the degree of the ID the greater the risk of medication resistant epilepsy...
November 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29247964/intraindividual-variability-in-attentional-vigilance-in-children-with-epilepsy
#14
Kyle Srnka, Michael Seidenberg, Bruce Hermann, Jana Jones
Attentional vigilance, the ability to maintain focus over time, is frequently impaired in childhood epilepsy. Typically, indices of Omissions (failure to detect a target) and Commissions (responding to a nontarget) are considered primary indices of attentional vigilance. Recently, the concept of intraindividual variability (IIV) has been identified as an important measure of attentional vigilance in several pediatric and adult clinical populations, but has not yet been systematically examined in childhood epilepsy...
December 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29246095/role-of-neuroinflammation-in-evolution-of-childhood-epilepsy
#15
Sookyong Koh
Until a decade ago, epilepsy research had focused mainly on alterations of neuronal activities and excitability. Such neurocentric emphasis has neglected the role of glia and involvement of inflammation in the pathogenesis of epilepsy. It is becoming clear that immune and inflammatory reactions do occur in the brain despite the brain's lack of conventional lymphatic drainage and graft acceptance and the presence of vascular brain barrier that tightly regulates infiltration of blood monocytes and lymphocytes...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29238228/prenatal-exposure-to-antipsychotic-medication-and-use-of-primary-health-care-system-in-childhood-a-population-based-cohort-study-in-denmark
#16
Anne Mette Lund Würtz, Claus Høstrup Vestergaard, Dorte Rytter, Merete Juul Sørensen, Jakob Christensen, Mogens Vestergaard, Bodil Hammer Bech
Background: Antipsychotic (AP) medication is increasingly used for many health conditions. Prenatal exposure to AP medication has been associated with several adverse outcomes, but the findings remain inconsistent. Purpose: We aimed to investigate prenatal exposure to AP medication and the use of primary health care system in childhood. Subjects and methods: All live-born singletons in Denmark during 1997-2012 were identified in the nationwide Danish National Patient Register and followed until December 31, 2013 (n = 963,010)...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/29237403/isolated-and-repeated-stroke-like-episodes-in-a-middle-aged-man-with-a-mitochondrial-nd3-t10158c-mutation-a-case-report
#17
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-Ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes...
December 13, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29232569/source-analysis-of-epileptiform-discharges-in-absence-epilepsy-using-magnetoencephalography-meg
#18
Veeranna Gadad, Sanjib Sinha, Narayanan Mariyappa, Jayabal Velmurugan, G Chaitanya, Jitender Saini, Kandivel Thennarasu, Parthasarathy Satishchandra
PURPOSE: Magnetoencephalography (MEG) was used to record and localize the sources of the epileptiform discharges, in absence epilepsy, at three different time intervals to infer the sources of involvement during generation and propagation. METHODS: Twenty patients with absence epilepsy (M:F=1:1; age: 10.2±3.4years), which included 12 patients with childhood absence epilepsy (CAE) and 8 patients with juvenile absence epilepsy (JAE), were recruited in this prospective MEG based study...
December 5, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29229893/prognostic-factors-for-epilepsy-following-first-febrile-seizure-in-saudi-children
#19
Abdullah I Almojali, Anwar E Ahmed, Muhammed Y Bagha
BACKGROUND: Febrile seizure is the most common convulsive event during childhood, but it is generally considered benign. OBJECTIVES: To estimate the rate of epilepsy after first presentation of febrile seizure and to describe factors that can predispose children to have subsequent epilepsy after their first febrile seizure. DESIGN: Retrospective chart review. SETTING: A tertiary care center in Riyadh. PATIENTS AND METHODS: All children whose first febrile seizure developed between 2009-2012, and who were admitted to the pediatric wards...
November 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29226569/children-born-by-women-with-rheumatoid-arthritis-have-increased-susceptibility-for-selected-chronic-diseases-a-nationwide-cohort-study
#20
Line R Jølving, Jan Nielsen, Ulrik S Kesmodel, Rasmus G Nielsen, Signe S Beck-Nielsen, Bente M Nørgård
OBJECTIVE: Fetal exposure to maternal rheumatoid arthritis (RA) might impact the long-term risk of disease in the offspring. We examined a possible association between maternal RA and 15 selected groups of chronic diseases in the offspring. METHODS: This nationwide cohort study was based on the Danish health registries and included data on all children born alive in Denmark from January 1st 1989 to December 31st 2013. The cohort comprised 2106 children born by women with RA (exposed), and 1 378 539 children born by women without RA (unexposed)...
December 11, 2017: Arthritis Care & Research
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